spinal muscular atrophySpinal muscular atrophy (SMA) is a group of genetic diseases that cause weakness and wasting in voluntary muscles of infants and children and more rarely in adults. It is caused by inadequate production of a protein called survival motor neuron (SMN) protein coded by SMN1...
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. J. Neurol. Neurosurg. Psychiatry 91, 1166–1174 (2020). PubMed Google Scholar Hagenacker, T. et al. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, ...
SMN蛋白表达不足将导致脊髓前角运动神经元变性,继而造成肌肉神经源性肌萎缩,罹患脊髓性肌萎缩(Spinal Muscular Atrophy, SMA),是中国人最常见的常染色体隐性遗传的神经肌肉病。中国人群1174对夫妇中既有1对有生育患儿风险,风险值为1/4。95%的SMA患者是由SMN1基因第7外显子的纯合缺失所致。 临床表现 SMA患者临床主...
Spinal Muscular Atrophy(SMA),即脊髓性肌萎缩,是一种罕见且严重的遗传性神经肌肉退行性疾病。以下是对该疾病的详细
(redirected fromMuscular atrophy, spinal) Medical n. Any of several forms of a hereditary, progressive disease that involves loss of motor neurons in the spinal cord and brainstem and is characterized by muscle weakness and atrophy that vary in severity and age of onset. ...
病情描述(发病时间、主要症状、症状变化等):脊髓性肌萎缩(spinalmuscularatrophy,SMA)外显子7和8缺失纯合子曾经治疗情况和效果:脊髓性肌萎缩(spinal muscular atrophy,SMA) 外显子7和8缺失纯合子想得到怎样的帮助:为了避免此疾病的发生,生二胎时要做哪些检查_有问
In this article: Benefits Exercises Safety Tips Physical therapy FAQsExercise can enhance the lives of people with spinal muscular atrophy (SMA) by improving or maintaining function and quality of life. This is accomplished through activities that help to maintain or increase muscle strength, ...
AlexFayMD, PhD, inPediatric Clinics of North America, 2023 Key points • Spinal muscular atrophyis anautosomal recessivemotor neuron diseasethat causes progressiveweakness, and the infantile-onset type I disease is fatal if untreated in infants. ...
Objective: Determine safety and effectiveness of nusinersen in adults with spinal muscular atrophy (SMA) Type II/III.Background: Nusinersen has not been extensively studied in adults with SMA.Design/Methods: Prospective, multicenter, longitudinal observational study of adults with SMA Type II/III ...
Panelists examine the natural history of spinal muscular atrophy (SMA), assessing the characteristic indicators of motor function deterioration and the loss of ambulatory abilities as patients advance in age. EP: 1.Clinical Features and Phenotypes of Spinal Muscular Atrophy Now Viewing EP: 2.Natural...